Key result
Genetic variation in KCNJ3 and KCNJ5 is not involved in the pathogenesis of sinus node dysfunction, as 0 mutations were identified in 43 affected patients.
Why the study?
Is genetic variation in KCNJ3 and KCNJ5 involved in the pathogenesis of sinus node dysfunction?
Observational (n=43)
No
Is genetic variation in KCNJ3 and KCNJ5 involved in the pathogenesis of sinus node dysfunction?
Genetic variation in the KCNJ3 and KCNJ5 genes encoding KACh channel subunits does not appear to be involved in the pathogenesis of sinus node dysfunction.
Does not support KCNJ3/KCNJ5 screening in sinus node dysfunction; leaves open other genetic contributors.
BACKGROUND: Sinus node dysfunction (SND) is a heterogeneous disorder of unknown etiology characterized by a variety of supraventricular arrhythmias with symptoms of syncope, palpitations, and dizziness. The mechanism underlying the abnormal rhythm is incompletely understood. OBJECTIVE: Because vagal stimulation and acetylcholine (ACh) affect the function of pacemaker cells, we hypothesized that genetic variation in the genes encoding the ACh-activated K(+) channels, the KACh channels, could be involved in the pathogenesis of SND. METHODS AND RESULTS: We screened 184 patients listed in the pacemaker registry of the Copenhagen University Hospital aged <60 years at pacemaker implantation for SND in the period 1982-2005. Forty-three patients fulfilled the following inclusion criteria: documented sinus arrest, asystole, or extreme sinus bradycardia. The coding sequences of KCNJ3 and KCNJ5, encoding the main subunits of the KACh channels, were re-sequenced. We identified several known single nucleotide polymorphisms in KCNJ3 and KCNJ5, but no mutations in either of the genes. CONCLUSIONS: Genetic variation in KCNJ3 and KCNJ5 encoding the subunits of the KACh channels is apparently not involved in the pathogenesis of SND.
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Holmegard et al. (2010) conducted an observational in Sinus node dysfunction (n=43). Genetic variation in KCNJ3 and KCNJ5 was evaluated on Mutations in KCNJ3 and KCNJ5. Genetic variation in KCNJ3 and KCNJ5 is not involved in the pathogenesis of sinus node dysfunction, as 0 mutations were identified in 43 affected patients.
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